Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014249.4:c.932G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268100.1.1 | United Arab Emirates | Retinal dystrophy | Unknown | Yes | Yes | |
| 268100.1.3 | United Arab Emirates | Unknown | Yes | Yes | Unaffected sibling of 268100.1.1 |